SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 15 1996 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 15 1 1999 2019
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		disease Disease or Syndrome 4 78 0.100 None 1.000 11 50 1999 2011
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		disease Disease or Syndrome 4 2 0.090 None 1.000 9 1 2001 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.020 None 1.000 2 2011 2016
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		disease Disease or Syndrome 9 3 0.020 None 1.000 2 2000 2004
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.020 None 1.000 2 2009 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 3 2009 2009
CUI: C0238790
Disease: bone destruction
bone destruction 		disease Disease or Syndrome 234 3 0.010 None 1.000 1 2014 2014
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2018 2018
CUI: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		disease Neoplastic Process 78 7 0.010 None 1.000 1 2006 2006
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 2 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2001 2001
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2008 2008
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		disease Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2018 2018
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 2 2019 2019
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7 		disease Neoplastic Process 44 3 0.010 None 1.000 1 2013 2013
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2008 2008
CUI: C4274414
Disease: Epstein-Barr virus associated gastric carcinoma
Epstein-Barr virus associated gastric carcinoma 		disease Neoplastic Process 20 1 0.010 None 1.000 1 2010 2010
CUI: C4523900
Disease: Axonal edema
Axonal edema 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2002 2002
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2008 2008
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2008 2008
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2008 2008
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2008 2008